Canonical Allele Identifier: CA307827473
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs4806212

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826669G>C , CM000681.2:g.35826669G>C GRCh38
NC_000019.9:g.36317571G>C , CM000681.1:g.36317571G>C GRCh37
NC_000019.8:g.41009411G>C NCBI36
NG_013356.2:g.47619C>G , LRG_693:g.47619C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3595-24C>G MANE Select ENSP00000368190.4:n.3595-24C>G
ENST00000353632.6:c.3475-24C>G ENSP00000343634.5:n.3475-24C>G
ENST00000378910.9:c.3595-24C>G ENSP00000368190.4:n.3595-24C>G
NM_004646.3:c.3595-24C>G , LRG_693t1:c.3595-24C>G NP_004637.1:n.3595-24C>G
NM_004646.4:c.3595-24C>G MANE Select NP_004637.1:n.3595-24C>G